Knowledge base for genomic medicine in Japanese
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遺伝性乳がん・卵巣がん症候群
腫瘍性疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter) | BRCA1 | Pathogenic | 17 | 41245012 | 41245012 | C | A | reviewed by expert panel | ClinGen:CA10589839 |
| Deletion | NM_007294.4(BRCA1):c.2532_2536del (p.Ser844fs) | BRCA1 | Pathogenic | 17 | 41245012 | 41245016 | TCTATG | T | reviewed by expert panel | ClinGen:CA10589840 |
| Deletion | NM_007294.4(BRCA1):c.2529_2530del (p.Ser844fs) | BRCA1 | Pathogenic | 17 | 41245018 | 41245019 | CTT | C | reviewed by expert panel | ClinGen:CA10589841 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter) | BRCA1 | Pathogenic | 17 | 41245024 | 41245024 | C | A | reviewed by expert panel | ClinGen:CA10589842 |
| Duplication | NM_007294.4(BRCA1):c.2524dup (p.Glu842fs) | BRCA1 | Pathogenic | 17 | 41245023 | 41245024 | T | TC | reviewed by expert panel | ClinGen:CA10589843 |
| Deletion | NM_007294.4(BRCA1):c.2501del (p.Gly834fs) | BRCA1 | Pathogenic | 17 | 41245047 | 41245047 | TC | T | reviewed by expert panel | ClinGen:CA10589844 |
| Duplication | NM_007294.4(BRCA1):c.2490_2497dup (p.Leu833fs) | BRCA1 | Pathogenic | 17 | 41245050 | 41245051 | A | AATGGATAC | reviewed by expert panel | ClinGen:CA10589845 |
| Deletion | NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs) | BRCA1 | Pathogenic | 17 | 41245056 | 41245059 | ATACT | A | reviewed by expert panel | ClinGen:CA10589846 |
| Indel | NM_007294.4(BRCA1):c.2477_2492delinsTG (p.Thr826fs) | BRCA1 | Pathogenic | 17 | 41245056 | 41245071 | TACTTAAAGCCTTCTG | CA | reviewed by expert panel | ClinGen:CA10589847 |
| Insertion | NM_007294.4(BRCA1):c.2487_2488insCCCCT (p.Lys830fs) | BRCA1 | Pathogenic | 17 | 41245060 | 41245061 | T | TAGGGG | reviewed by expert panel | ClinGen:CA10589848 |
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